扩展载体查遗传遗传性疾病使用外基因组和基因组测序
N Belnap1, K Ramsey1, A Abraham1
1Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
Journal of genetic counseling
|August 27, 2024
概括
外基因组和基因组测序为预孕遗传查提供了全面的方法,比目前的基因组提供了更多的罕见遗传疾病风险对象. 这种先进的方法通过检测潜在的遗传条件,有助于计划生育.
科学领域:
- 基因组学就是基因组学.
- 生殖医学 生殖医学
- 基因查 基因查 基因查
背景情况:
- 目前的预孕遗传查 (PCGS) 依赖于有限的基因组,可能缺失的夫妇有患罕见自体逆向 (AR) 和X链接 (XL) 疾病的风险.
- 需要一个更全面的方法来识别在怀孕之前面临风险的夫妇对于知情的计划生育至关重要.
研究的目的:
- 评估使用外基因组测序 (ES) 和基因组测序 (GS) 进行PCGS的可行性.
- 开发一种工作流程,用于识别AR和XL疾病的风险等位基因,而无需预定义的基因组.
- 将ES/GS的疗效与ACMG推的当前载体查面板进行比较.
主要方法:
- 分析了150个家族 (trios) 的先前存在的,已取消识别的外体和基因组测序数据.
- 识别与AR和XL疾病风险相关的父母变异.
- 鉴定出有风险的夫妇与通过标准ACMG推的基因小组检测的夫妇进行比较.
主要成果:
- 在150对夫妇中,有17个家庭被确定为AR或XL疾病的风险.
- 在这17个有风险的夫妇中,只有3个会使用ACMG推的当前载体查面板来确定.
- 通过ES和GS,成功地确定了那些有罕见AR/XL疾病风险的夫妇,而目前的指导方针忽略了这些风险.
结论:
- 外基因组和基因组测序可用于全面的预孕遗传查,大大改善了对有风险夫妇的检测.
- 与标准基因组相比,这种方法可以识别出更多的伴侣面临罕见遗传疾病的风险.
- 在报告方面仍然存在挑战,变种要求罕见变种,确定可报告的疾病,以及重复扩展等技术限制.
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